NEDMABA
MCID: NRD081
MIFTS: 20

Neurodevelopmental Disorder with Microcephaly, Arthrogryposis, and Structural Brain Anomalies (NEDMABA)

Categories: Genetic diseases, Neuronal diseases

Aliases & Classifications for Neurodevelopmental Disorder with Microcephaly, Arthrogryposis,...

MalaCards integrated aliases for Neurodevelopmental Disorder with Microcephaly, Arthrogryposis, and Structural Brain Anomalies:

Name: Neurodevelopmental Disorder with Microcephaly, Arthrogryposis, and Structural Brain Anomalies 56 73 6 17
Nedmaba 56 73

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
death in infancy may occur


Classifications:



External Ids:

OMIM 56 618622
MeSH 43 D065886
MedGen 41 CN262441

Summaries for Neurodevelopmental Disorder with Microcephaly, Arthrogryposis,...

OMIM : 56 Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies (NEDMABA) is an autosomal recessive disorder characterized by severe global developmental delay, usually with hypotonia and absence of spontaneous movements other than head control, impaired intellectual development with absent speech, distal contractures, progressive microcephaly, dysmorphic features, and distal skeletal abnormalities, such as rocker-bottom feet and clenched hands with camptodactyly. Brain imaging tends to show a simplified gyral pattern of the cerebral cortex, delayed myelination, thin corpus callosum, and hypoplasia of the brainstem and cerebellum. The disorder may be complicated by feeding and/or breathing difficulties, often resulting in death in infancy (summary by Magini et al., 2019). (618622)

MalaCards based summary : Neurodevelopmental Disorder with Microcephaly, Arthrogryposis, and Structural Brain Anomalies, is also known as nedmaba. An important gene associated with Neurodevelopmental Disorder with Microcephaly, Arthrogryposis, and Structural Brain Anomalies is SMPD4 (Sphingomyelin Phosphodiesterase 4). Affiliated tissues include brain, cortex and cerebellum.

UniProtKB/Swiss-Prot : 73 Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies: An autosomal recessive disorder characterized by severe global developmental delay, severely impaired intellectual development with poor or absent speech, severe encephalopathy, microcephaly with simplified gyral pattern, hypomyelination, thin corpus callosum, mild cerebellar hypoplasia, brainstem hypoplasia, congenital arthrogryposis, dysmorphic features, and respiratory problems often leading to early demise.

Related Diseases for Neurodevelopmental Disorder with Microcephaly, Arthrogryposis,...

Symptoms & Phenotypes for Neurodevelopmental Disorder with Microcephaly, Arthrogryposis,...

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Nose:
depressed nasal bridge

Head And Neck Face:
smooth philtrum
short philtrum
receding forehead

Abdomen Gastrointestinal:
feeding difficulties
swallowing difficulties
tube feeding

Head And Neck Ears:
low-set ears
large ears
simple helices

Neurologic Central Nervous System:
cerebellar hypoplasia
inability to walk
simplified gyral pattern
seizures (in some patients)
delayed walking
more
Respiratory:
respiratory distress

Head And Neck Eyes:
downslanting palpebral fissures
epicanthal folds
short palpebral fissures

Prenatal Manifestations Delivery:
preterm delivery

Respiratory Larynx:
laryngomalacia (in some patients)

Head And Neck Neck:
short neck

Muscle Soft Tissue:
hypertonia
hypotonia

Growth Other:
intrauterine growth retardation
poor overall growth

Cardiovascular Heart:
dilated cardiomyopathy
patent ductus arteriosus
congenital heart defects (in some patients)
septal defects

Skeletal Hands:
single transverse palmar crease
camptodactyly
clenched hands

Head And Neck Mouth:
cleft lip
thin upper lip

Skeletal Feet:
rocker-bottom feet
clubfoot

Skeletal:
arthrogryposis, congenital

Head And Neck Head:
microcephaly, congenital, progressive (down to -7 sd)

Clinical features from OMIM:

618622

Drugs & Therapeutics for Neurodevelopmental Disorder with Microcephaly, Arthrogryposis,...

Search Clinical Trials , NIH Clinical Center for Neurodevelopmental Disorder with Microcephaly, Arthrogryposis, and Structural Brain Anomalies

Genetic Tests for Neurodevelopmental Disorder with Microcephaly, Arthrogryposis,...

Anatomical Context for Neurodevelopmental Disorder with Microcephaly, Arthrogryposis,...

MalaCards organs/tissues related to Neurodevelopmental Disorder with Microcephaly, Arthrogryposis, and Structural Brain Anomalies:

40
Brain, Cortex, Cerebellum, Heart

Publications for Neurodevelopmental Disorder with Microcephaly, Arthrogryposis,...

Articles related to Neurodevelopmental Disorder with Microcephaly, Arthrogryposis, and Structural Brain Anomalies:

# Title Authors PMID Year
1
Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis. 6 56
31495489 2019

Variations for Neurodevelopmental Disorder with Microcephaly, Arthrogryposis,...

ClinVar genetic disease variations for Neurodevelopmental Disorder with Microcephaly, Arthrogryposis, and Structural Brain Anomalies:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SMPD4 NM_017951.4(SMPD4):c.1407-9G>ASNV Pathogenic 691968 2:130912841-130912841 2:130155268-130155268
2 SMPD4 NM_017951.4(SMPD4):c.1570+1G>ASNV Pathogenic 691969 2:130912668-130912668 2:130155095-130155095
3 SMPD4 NM_017951.4(SMPD4):c.462+1G>TSNV Pathogenic 691970 2:130930851-130930851 2:130173278-130173278
4 SMPD4 NM_017951.4(SMPD4):c.1473_1479del (p.Leu492fs)deletion Pathogenic 691973 2:130912760-130912766 2:130155187-130155193
5 SMPD4 NM_017951.4(SMPD4):c.692T>C (p.Leu231Pro)SNV Likely pathogenic 870338 2:130930006-130930006 2:130172433-130172433
6 SMPD4 NM_017951.4(SMPD4):c.370G>T (p.Glu124Ter)SNV Likely pathogenic 870337 2:130931103-130931103 2:130173530-130173530
7 SMPD4 NM_017951.4(SMPD4):c.199C>T (p.Gln67Ter)SNV Likely pathogenic 691971 2:130932531-130932531 2:130174958-130174958
8 SMPD4 NM_017951.4(SMPD4):c.1337C>T (p.Pro446Leu)SNV Uncertain significance 691972 2:130913677-130913677 2:130156104-130156104
9 SMPD4 NM_017951.4(SMPD4):c.2281C>T (p.Gln761Ter)SNV Uncertain significance 870339 2:130910448-130910448 2:130152875-130152875
10 SMPD4 NM_017951.4(SMPD4):c.1982C>T (p.Ala661Val)SNV Uncertain significance 870336 2:130911303-130911303 2:130153730-130153730

UniProtKB/Swiss-Prot genetic disease variations for Neurodevelopmental Disorder with Microcephaly, Arthrogryposis, and Structural Brain Anomalies:

73
# Symbol AA change Variation ID SNP ID
1 SMPD4 p.Leu231Pro VAR_083331

Expression for Neurodevelopmental Disorder with Microcephaly, Arthrogryposis,...

Search GEO for disease gene expression data for Neurodevelopmental Disorder with Microcephaly, Arthrogryposis, and Structural Brain Anomalies.

Pathways for Neurodevelopmental Disorder with Microcephaly, Arthrogryposis,...

GO Terms for Neurodevelopmental Disorder with Microcephaly, Arthrogryposis,...

Sources for Neurodevelopmental Disorder with Microcephaly, Arthrogryposis,...

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